title: Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias.
abstract: OBJECTIVE
  We reviewed all cases with fetal skeletal dysplasia and correlated the accuracy of prenatal diagnoses with the final post-mortem, radiological, or molecular diagnoses. The accuracy of prenatal prediction of lethality was also reviewed.
  
  
  METHODS
  All cases of fetal skeletal dysplasia referred between October 2002 and August 2010 were reviewed. Perinatal outcome, the accuracy of prenatal diagnosis, and prediction of lethality were ascertained. Lethality was suspected when significant thoracic narrowing, severe micromelia, multiple fractures, or long bone bowing was present.
  
  
  RESULTS
  There were 40 cases of skeletal dysplasia. Thirty-nine (97.5%) were singletons and one (2.5%) was a dichorionic twin pregnancy. Twenty-eight (70%) pregnancies were terminated, five (12.5%) were stillborn, and only seven (17.5%) cases were live born. A final diagnosis was established in 28 (70%) cases. In 29 cases with a presumptive prenatal diagnosis, this was confirmed in 23 (79.3%) cases postnatally. Lethality was predicted with 100% certainty.
  
  
  CONCLUSIONS
  We report higher prenatal/postnatal concordance rates in this series. A precise prenatal diagnosis is frequently difficult and often inaccurate. Prediction of lethality is much easier and often possible with accuracy. Parents need to be aware that the outcome of many skeletal dysplasias is poor.
authors.affiliation: Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College London, London, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Yeh
authors.forename: Ferha
authors.initials: F
authors.lastname: Saeed
authors.forename: Gowrishankar
authors.initials: G
authors.lastname: Paramasivam
authors.forename: Josephine
authors.initials: J
authors.lastname: Wyatt-Ashmead
authors.forename: Sailesh
authors.initials: S
authors.lastname: Kumar
mesh_terms: D000025:Abortion, Eugenic; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000401:mortality; D005189:False Positive Reactions; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000175:diagnosis* / Q000401:mortality; D005333:Fetus / Q000002:abnormalities; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D015203:Reproducibility of Results; D012189:Retrospective Studies; D015996:Survival Rate; D016216:Ultrasonography, Prenatal / Q000379:methods* / Q000706:statistics & numerical data; D055815:Young Adult